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Table 3 Mutations described as MPS I-Hurler associated in literature

From: An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

Nonsense

Reference

Other

Reference

p.W41X

[40]

p.G51D

[33, 38]

p.Y64X

[37]

c.134del12

[10, 34]

p.Q60X

[27]

p.G208V

[27]

p.Q63X

[37, 39]

p.L218P

[27, 34]

p.Q70X

[33, 37]

p.A327P

[27, 33]

p.P201X

[33]

p.T366P

[37]

p.E274X

[37]

c.704ins5

[37]

p.Q310X

[37]

c.1190-1G > A

[41]

p.Y343X

[37, 39]

  

p.W402X

[33, 37]

  

p.E404X

[37, 40]

  

p.Q561X

[36]

  

p.Y581X

[35]

  

p.Q584X

[37]

  

p.R619X

[27]

  

p.R621X

[34]

  

p.W626X

[40]

  
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172